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Why you should go for genetic testing

According to medics, genetic testing is when a blood test is taken on prospective parents to look for abnormal genes that could cause certain diseases or abnormalities in their baby.

According to medics, genetic testing is when a blood test is taken on prospective parents to look for abnormal genes that could cause certain diseases or abnormalities in their baby.

While some experts recommend that before couples get married they should know their genetic information, Dr Joseph Mucubitsi, a consultant pediatrician and cardiologist at King Faisal Hospital, Kigali, says genetic testing is necessary only when there has been any history about genetic diseases in any of the partner’s family.


He says in Rwanda’s case, genetic testing could be costly for many people (about Rwf120,000), the reason it is rarely done and due to limited service centres for this test.


However, Mucumbitsi points out that there are typical hereditary diseases one should look out for before making a decision to get married or even conceive.


According to Daniel Gahungu, a general practitioner at Polyclinique de I’Etoile in Kigali, knowing one’s genetic information will help couples be aware of their status for proper planning, such as choosing whether they will be able to raise a child with genetic abnormalities or not.

Giving an example of chromosome abnormality diseases like sickle cell anaemia, Gahungu says some people born with the condition have been able to survive for years because their parents were informed about these circumstances and were educated about how to look after such a child.

“Bearing a child with a recessive disorder means that both parents pass on an affected gene to the baby in order for the child to be affected. In other words, if you screen positive for a genetic abnormality but your partner does not, your child will not inherit the condition, but the child is a carrier of that genetic disorder,” says Gahungu.

So, with this information, the child is raised with the knowledge of the possibility that he or she should avoid a partner that might be a carrier too to avoid cross-generational diseases, he adds.

Down’s syndrome is another disorder the medic also pointed out as one of the genetic diseases that couples should endeavour to know about.

“This being a set of physical and mental traits caused by a gene problem that happens before birth, children who have Down’s syndrome tend to have some degree of intellectual disability,” Gahungu explains.

However, being a lifelong condition, the medic says children with this disorder when given proper care and support, they can grow up to have healthy, happy and productive lives.

Mucumbitsi adds that although a disease like cystic fibrosis is a rare genetic disorder, it is important for one to know about it since it affects many body organs, mostly the lungs, but also the liver, pancreas and kidneys. He also adds that it is usually misdiagnosed and called for critical observation.

He says even though routine genetic testing might not be possible for many, as people age they should be sure to know their genetic information. This, he says, is necessary since, as one ages, there are increased chances of genetic disorders in one’s body.

Relationship between genetics and nutrition

According to Private Kamanzi, a nutritionist at Amazon Nutrition Cabinet in Remera, Kigali, if there are not enough proteins, especially RNA and DNA in one’s body, this could affect the formation of cells of a new-born baby or a growing foetus.

Giving an example of an expectant mother, Kamanzi says lack of enough proteins in the mother’s diet may lead to iron deficiency for the baby.

Kamanzi also says poor genetic information from RNA to the DNA could lead to abnormalities.

“Abnormalities usually associated with missing body parts are due to lack of specific amino acids. For any body part to be formed, there must be an intervention of certain nutrients, including proteins,” he explains.

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